Τίτλος:
A gamma-haplotypes: A new group of genetic markers for thalassemic
mutations inside the 5 ` regulatory region of the human A gamma-globin
gene
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
This study illustrates the relationship between a group of nucleotide
Variations within the 5’ regulatory region of the A gamma -globin gene
[A gamma -588 A–>G, A gamma -499 T–>A and the 4-bp deletion (A gamma
-225 to -222 AGCA)] and the spectrum of delta- and beta -thalassemia
mutations in the Hellenic population. These sequence variations,
screened by means of denaturing gradient gel electrophoresis, form four
separate frameworks (A gamma -haplotypes), each one of which was found
to be linked in cis with certain delta- and beta -thalassemia mutations
found in the Hellenic population. In addition, two novel base
substitutions inside the 5’ regulatory region of the A gamma -globin
gene(A gamma -521 C–>A and A gamma -500 C–>T) were identified during
this study, which together with A gamma -haplotypes seem to be silent
polymorphisms during adult life, as indicated by transient expression
assays. Our data show that A gamma -haplotypes represent genetic markers
for the spectrum of thalassemic mutations, found in the Hellenic
population and can constitute an important genetic repository upon which
mutations leading to thalassemia and hemoglobinopathies occurred. (C)
2001 Wiley-Liss, Inc.
Συγγραφείς:
Patrinos, GP
Kollia, P
Papapanagiotou, E and
Loutradi-Anagnostou, A
Loukopoulos, D
Papadakis, MN
Περιοδικό:
American Journal of Hematology
Εκδότης:
Wiley-Liss, Inc.
Λέξεις-κλειδιά:
gamma-globin genes; thalassemia; mutations; polymorphisms; haplotypes;
DGGE
DOI:
10.1002/1096-8652(200102)66:2<99::AID-AJH1024>3.3.CO;2-0
